Síndrome de coalición tarso-carpiana: un caso familiar

• Autores: S. Caino, B. Dello Ruso, V. Fano, M.G. Obregón
• Localización: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), ISSN-e 1696-4608, ISSN 1695-4033, Vol. 76, Nº. 6, 2012, págs. 355-359
• Idioma: español
• Títulos paralelos:
  • Tarsal-carpal coalition syndrome: a familial case
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• Resumen

  • Abstract Tarsal-carpal coalition syndrome (TCC, OMIM #186570) is an autosomal dominant disorder characterised by fusion of the carpals, tarsals, and phalanges, with the short first metacarpals causing brachydactyly and humeroradial fusion. Mutations in the NOG gene have been reported in many families. We describe a family with carpal tarsal fusion seen at a Skeletal Dysplasia Clinic and look at the differential diagnoses.